A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595744



Internal ID16383153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152677136..152720630hg38UCSC Ensembl
Innerchr4:153598288..153641782hg19UCSC Ensembl
Innerchr4:153817738..153861232hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3843495
hg1943495
hg1843495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153181
SamplesHGDP00218
Known GenesTMEM154
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595744
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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